LOVD HBD homepage

General information
Gene name hemoglobin subunit delta
Gene symbol HBD
Chromosome Location 11p15.4
Database location MingQi_Lab
Curator Peikuan Cong and Xiangmin Xu
PubMed references View all (unique) PubMed references in the HBD database
Date of creation February 02, 2018
Last update March 12, 2018
Version HBD180312
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_000007.3
Transcript refseq ID NM_000519.3
Total number of unique DNA variants reported 27
Total number of individuals with variant(s) 27
Total number of variants reported 27
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NOTE The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]

Graphical displays and utilities
Summary tables Summary of all sequence variants in the HBD database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the HBD database, without patient data
Complete sequence variant listing Listing of all sequence variants in the HBD database
Variants with no known pathogenicity Listing of all HBD variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 4829
Entrez Gene 3045
OMIM - Gene 142000
UniProtKB (SwissProt/TrEMBL) P02042
HGMD HBD
GeneCards HBD
GeneTests HBD

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.